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    Lysosomal Storage Disorders

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    Roscelie Kho
    Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes or proteins. This results in the accumulation of substrates in the lysosomes. The document lists several specific lysosomal storage disorders including Gaucher disease, Krabbe disease, Tay-Sachs disease, Fabry disease, and Niemann-Pick disease. For each disorder it describes the inheritance pattern, deficient enzyme, pathophysiology, clinical features, and diagnostic findings. Other lysosomal storage disorders discussed include the mucopolysaccharidoses and mucolipidoses.

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    Lysosomal Storage Disorders

    Uploaded by

    Roscelie Kho
    15 views6 pages
    Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes or proteins. This results in the accumulation of substrates in the lysosomes. The document lists several specific lysosomal storage disorders including Gaucher disease, Krabbe disease, Tay-Sachs disease, Fabry disease, and Niemann-Pick disease. For each disorder it describes the inheritance pattern, deficient enzyme, pathophysiology, clinical features, and diagnostic findings. Other lysosomal storage disorders discussed include the mucopolysaccharidoses and mucolipidoses.

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    Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes or proteins. This results in the accumulation of substrates in the lysosomes. The document lists several specific lysosomal storage disorders including Gaucher disease, Krabbe disease, Tay-Sachs disease, Fabry disease, and Niemann-Pick disease. For each disorder it describes the inheritance pattern, deficient enzyme, pathophysiology, clinical features, and diagnostic findings. Other lysosomal storage disorders discussed include the mucopolysaccharidoses and mucolipidoses.

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    © All Rights Reserved
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    15 views6 pages

    Lysosomal Storage Disorders

    Uploaded by

    Roscelie Kho
    Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes or proteins. This results in the accumulation of substrates in the lysosomes. The document lists several specific lysosomal storage disorders including Gaucher disease, Krabbe disease, Tay-Sachs disease, Fabry disease, and Niemann-Pick disease. For each disorder it describes the inheritance pattern, deficient enzyme, pathophysiology, clinical features, and diagnostic findings. Other lysosomal storage disorders discussed include the mucopolysaccharidoses and mucolipidoses.

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    © All Rights Reserved
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    of 6

    Lysosomal Storage Disorders

    Wednesday, January 13, 2021 8:44 AM

    Disease Inheritance Pathophysiology

    Sphingolipidoses
    Gaucher disease Autosomal ↓ β-Glucocerebrosidase • Hepat
    recessive → ↑ glucocerebroside • Devel
    • Bone
    especi
    of fem
    • Pancy

    Krabbe disease Autosomal ↓ Galactocerebrosidase - Periph


    recessive → ↑galactocerebroside & - Develo
    psychosine - Loss o

    Tay-Sachs disease Autosomal ↓ Hexosaminidase A - Progre


    recessive → ↑ GM2 ganglioside neurod
    - Hyper
    - hyperr
    - Develo
    - Macul

    Fabry disease X-linked ↓ α-Galactosidase A Early


    recessive → ↑ ceramide trihexoside - Dyses
    - (Fabry
    - Hypoh
    - Angio
    Late s
    - Cardio
    - Nephr
    Clinical features Diagnostic
    findings

    tosplenomegaly Gaucher cells


    lopmental delay
    crises,
    ially avascular necrosis
    mur
    ytopenia

    heral neuropathy Globoid cells


    opmental delay
    of vision

    essive Lysosomes
    degeneration with onion-
    racusis skin appearanc
    reflexia e
    opmental delay
    la with red cherry spots

    symptoms Zebra bodies


    sthesia
    y crises)
    hidrosis
    okeratomas
    symptoms
    omyopathy
    ropathy
    - (Fabry
    - Hypoh
    - Angio
    Late s
    - Cardio
    - Nephr
    Metachromatic Autosomal ↓ Arylsulfatase A - Progre
    leukodystrophy recessive → ↑ cerebroside sulfate of the
    nervou
    - Ataxia
    - Develo
    - Memo
    Niemann-Pick disease Autosomal ↓ Sphingomyelinase - Progre
    recessive → ↑ sphingomyelin neurod
    - Macul
    - Hepat

    Mucopolysaccharidoses

    Hurler syndrome Autosomal ↓ α-L-iduronidase Develop


    recessive → ↑ heparan sulfate Facial d
    and dermatan sulfate Airway
    Hepatos

    Hunter syndrome X-linked ↓ Iduronate-2-sulfatase


    recessive → ↑ heparan sulfate
    and dermatan sulfate

    Mucolipidoses
    I-cell disease Autosomal ↓ N-acetylglucosaminyl-1- Coarse
    recessive phosphotransferase Corneal
    → ↑ abnormal Gingiva
    lysosomal Claw ha
    substances Kyphos
    Other
    Adrenoleukodystrophy X-linked ↓ ATP Progres
    y crises)
    hidrosis
    okeratomas
    symptoms
    omyopathy
    ropathy
    essive demyelination -
    e central and peripheral
    us system
    a
    opmental delay
    ory deficits
    essive Foam cells
    degeneration Zebra bodies
    la with cherry red spot
    tosplenomegaly

    pmental delay Corneal Zebra bodies


    dysmorphism clouding
    obstruction
    splenomegaly

    Aggressive
    behavior

    facial features -
    l clouding
    al hyperplasia
    and deformity
    scoliosis

    ssive deterioration of -
    → ↑ abnormal Gingiva
    lysosomal Claw ha
    substances Kyphos
    Other
    Adrenoleukodystrophy X-linked ↓ ATP Progres
    recessive binding cassette transport→ ↑ vision, h
    deposits of function
    very-long-chain fatty acids Dement
    Adrena
    al hyperplasia
    and deformity
    scoliosis

    ssive deterioration of -
    hearing, and motor
    n
    tia
    al insufficiency

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